Mutations in TERT, the Gene for Telomerase Reverse Transcriptase, in Aplastic Anemia
PMID 15814878
Variant NM_198253.3:c.3268G>A
Gene TERT
4 Matching Annotations
- Oct 2026
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www.nejm.org www.nejm.org
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Telomere biology and telomerase mutations in cirrhotic patients with hepatocellular carcinoma
PMID 28813500
Variant c.3268G>A
Phenotypes HP:0001402, HP:0001394
Phenotypes free-text hepatocellular carcinoma, cirrhosis
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www-nejm-org.libproxy.lib.unc.edu www-nejm-org.libproxy.lib.unc.edu
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Since familial idiopathic pulmonary fibrosis is also dominantly inherited, we hypothesized that telomere shortening causes this disease and that mutations in telomerase may contribute to it.
First connection between pulmonary fibrosis and TERT?
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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The clinical and functional effects of TERT variants in myelodysplastic syndrome
PMID 34019641
Phenotypes HP:0031413, HP:0002863
Phenotypes free-text short telomere length, myelodysplastic syndrome
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